Canonical Allele Identifier: CA2686429222

Gene: HR

Linked Data

• gnomAD v4: 8-22116536-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116540_22116541del , CM000670.2:g.22116540_22116541del	GRCh38
NC_000008.10:g.21974053_21974054del , CM000670.1:g.21974053_21974054del	GRCh37
NC_000008.9:g.22029998_22029999del	NCBI36
NG_008166.1:g.18980_18981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-110_3379-109del MANE Select	ENSP00000370826.4:n.3379-110_3379-109del
ENST00000680789.1:c.3379-110_3379-109del	ENSP00000505181.1:n.3379-110_3379-109del
ENST00000312841.9:c.3214-110_3214-109del	ENSP00000326765.8:n.3214-110_3214-109del
ENST00000381418.8:c.3379-110_3379-109del	ENSP00000370826.4:n.3379-110_3379-109del
ENST00000522016.1:n.1572-110_1572-109del
NM_005144.4:c.3379-110_3379-109del	NP_005135.2:n.3379-110_3379-109del
NM_018411.4:c.3214-110_3214-109del	NP_060881.2:n.3214-110_3214-109del
XM_005273569.1:c.3382-110_3382-109del	XP_005273626.1:n.3382-110_3382-109del
XM_006716367.1:c.3217-110_3217-109del	XP_006716430.1:n.3217-110_3217-109del
XM_005273569.2:c.3382-110_3382-109del	XP_005273626.1:n.3382-110_3382-109del
XM_006716367.2:c.3217-110_3217-109del	XP_006716430.1:n.3217-110_3217-109del
NM_005144.5:c.3379-110_3379-109del MANE Select	NP_005135.2:n.3379-110_3379-109del